Brattykid

Strange question...

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A few years back my mom gave me a packet of medical information regarding our family and specifically a gene test that I should get done that told her that the reason she has had 3 strokes is because our family carries a gene that predisposes us to having them.  She told me I should get tested to see if I carry the gene so I can find out if I will get them.  I haven't done anything about it because frankly, I don't know if I want to know if I carry it.  I think if I find out it will bring me down and give me anxiety that I currently don't have.  I just like to live my life and am making healthy changes for myself to hopefully avoid such things that I can (although if I have the gene, I think that would depress me and I'd give up all thoughts of trying to be healthy because I'm gonna just get them anyway.)  Crazy thinking right?  I know.

Anyway, we recently found out that my mom's sister who is only 5 years older than I am, has breast cancer. (only my paternal grandmother has had it before and at a later age.) So she got some genetic testing done and found out that she carries the CHEK2 gene which predisposes us to certain types of cancer (and it turns out since none of us knew that before - because her & my mom's mother died of non-hodkin's lymphoma at the age of 48 - most likely she also carried this gene.)  She strongly suggested that my mom get tested and each of us kids get tested.

Once again, I'm in a situation where DO I REALLY WANT TO KNOW?  I swear if I found out I had it, I'd make them remove everything from my colon to my boobs to my uterus. I wouldn't want to chance it.  I don't want to know that I'm definitely going to get some form of cancer. And probably at an early age (although my mom is 67 and she has never had cancer but she's too scared to even get her colon checked although she gets her mammograms regularly.)

Am I crazy for not wanting to know?  Should I just put it in my doctor's hands and let them guide me and make suggestions as to how often to get screened for cancer? I want to just get healthy with the lifestyle changes I'm making now and with surgery to help with my weight loss.  I want to enjoy life, not just fret about it constantly.  Has anyone here ever had something similar come up?  Thankfully, my dad's genes are much better and the only thing that runs on that side is lung cancer - which he had and beat.

Sorry for the long non-weight loss post, but I'm just freaking out here and I can't talk to my mom about it.

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What a can of worms DNA testing has opened up!

I’m not sure if I’d want to know, myself. I think if it scares you, and you’re taking the best care of yourself that you can, then it wouldn’t really benefit you to know if you carried the genes, since your behavior would be the same.

Also, keep in mind that carrying a gene doesn’t determine that you will get whatever it’s been identified to relate to. Just because you have an aunt who’s a carrier of something doesn’t mean that you will definitely end up with it. Even if you’re a carrier, you aren’t guaranteed to end up with it. It might make you feel better if you read some articles about DNA tests and the limits of their usefulness - and they are definitely of limited usefulness.

I just popped into the Wikipedia page on CHEK2 and it looks like one variant of mutation, a deletion of something or other nucleotide yadda yadda *science*, leads to a two-fold increase in likelihood of getting breast cancer for females. That’s definitely not a sure thing.

There’s all kinds of stuff in our DNA that we don’t know about that impacts us, as well as all kinds of behaviors we engage in that impact us (some that we know about, some that we have no clue about yet), so trying to take control of long term health outcomes by testing for something like this seems a little like a stab in the dark to me.

Take care of your health as best you can, and smile and nod if your aunt brings up testing. It might just not be something helpful for you to know about. Some people might react well to knowing and others not. You’re the person who would know best about your own reaction.

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A friend from High School discovered that her family had the gene for Huntington's disease.  Her mother and her sister have now passed away with it.  There is no prevention and no cure.  She passed on genetic testing because there was really nothing she could do to change the outcome and just wanted to be free to live her life.  She kept saying, "if it was something like the gene for breast cancer where I had a chance of beating it I might want to know"...

I don't think you're crazy for not wanting to know, but really you've kind of already had that put on you just by the suggestion that you might have the gene.  Or could have the gene.  Those of us with strong family history of anything always wonder...

Whatever you decide to do about genetic testing (and I don't think there is a "right" answer), the very best thing you can do is to control risk factors and your health and get those screenings done faithfully.

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We are all different when it comes to how much we want to know and being guided by your own feelings is in my opinion the best way to go. The problem with genetic stuff is it can make a difference in treatments that are appropriate or inappropriate for unrelated conditions. I talked to my doctor about this when my siblings were all testing positive for a particular gene. I wasn't sure I wanted the answer but he told me that even if I didn't want to know myself, he NEEDED to know. So I had the testing. Turns out I did have the gene and he told me about it when it impacted on a pharmaceutical decision. I'm glad I know now. It's not going to make any difference to my longevity now we all know about it, but it has quite heavily impacted how I get treated and how blood tests etc are interpreted since the discovery of this gene. It has become very relevant since my bypass, and knowing the results has allowed doctors to interpret some quite odd blood test results in a very different and non-concerning light.

It might well be the case in your situation that knowing about these genes might make no difference to how you receive treatment as long as you keep up standard testing protocols for the conditions it might highlight being of more risk. Definitely worth asking your doctor about if you have one you trust.

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I agree that it is an intensely personal decision, but I absolutely would get myself tested if I was told of a possible family genetic issue.

My thinking is simple - if the testing result is negative then I can relax and not worry about a bad gene for the rest of my life. On the other hand, if the testing result is positive then I can work with my doctors to ensure that any health problems caused by the gene are tested for and treated promptly and properly.  

I also would want to know so that I could warn my adult children. 

In any case, there is no right answer. 

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14 minutes ago, Res Ipsa said:

I agree that it is an intensely personal decision, but I absolutely would get myself tested if I was told of a possible family genetic issue.

My thinking is simple - if the testing result is negative then I can relax and not worry about a bad gene for the rest of my life. On the other hand, if the testing result is positive then I can work with my doctors to ensure that any health problems caused by the gene are tested for and treated promptly and properly.  

I also would want to know so that I could warn my adult children. 

In any case, there is no right answer. 

I have to agree - I feel it important that our children know.

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2 hours ago, Res Ipsa said:

I agree that it is an intensely personal decision, but I absolutely would get myself tested if I was told of a possible family genetic issue.

My thinking is simple - if the testing result is negative then I can relax and not worry about a bad gene for the rest of my life. On the other hand, if the testing result is positive then I can work with my doctors to ensure that any health problems caused by the gene are tested for and treated promptly and properly.  

I also would want to know so that I could warn my adult children. 

In any case, there is no right answer. 

This was my thinking on getting tested for the breast cancer gene. My aunt got breast cancer at age 43, so it was recommended that I test for it. The test came back saying I had a significantly DECREASED risk for breast cancer, so it ended up being a huge relief. 

Edited by Cardamom77

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Ladies, I feel it is my duty to remind us all that the vast majority of women with breast cancer DO NOT have the gene.  Yes that's right.  Genetics are only one piece of the complex disease that is breast cancer.  Please please please get your screenings when you are supposed to.  Seriously, mammograms are not that bad, and a plus to saggy breasts post-WLS is that they are actually easier to do the tests on (so my radiology friends tell me).  Silver lining :)

 

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2 hours ago, msmarymac said:

Ladies, I feel it is my duty to remind us all that the vast majority of women with breast cancer DO NOT have the gene.  Yes that's right.  Genetics are only one piece of the complex disease that is breast cancer.  Please please please get your screenings when you are supposed to.  Seriously, mammograms are not that bad, and a plus to saggy breasts post-WLS is that they are actually easier to do the tests on (so my radiology friends tell me).  Silver lining :)

 

I ALWAYS do! I actually had a mass recently (apparently benign), so I get scanned a little more frequently. It is a relief that I don't have the gene that pretty much means I'm going to get it, but preventative scans are always a good idea. Thanks for the reminder! 

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Thank you, everyone!! After thinking it over the last 36 hours and reading your responses, I've decided not to stress about it. I'll talk with my doctor about it and probably go the route of being tested for both genes I've been warned about and develop a proactive plan about it and at least have it in my medical record so that if needed, I can be checked for things more often or whatever so hopefully things can be caught early if necessary.  Thankfully I have no children of my own to pass these genes along to either!  I can't control everything - I can only do the best I can do to make myself the healthiest version of myself that I can be and enjoy my life.  

:wub: I love this forum.  :wub:

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On 8/8/2018 at 8:32 PM, Brattykid said:

Thank you, everyone!! After thinking it over the last 36 hours and reading your responses, I've decided not to stress about it. I'll talk with my doctor about it and probably go the route of being tested for both genes I've been warned about and develop a proactive plan about it and at least have it in my medical record so that if needed, I can be checked for things more often or whatever so hopefully things can be caught early if necessary.  Thankfully I have no children of my own to pass these genes along to either!  I can't control everything - I can only do the best I can do to make myself the healthiest version of myself that I can be and enjoy my life.  

:wub: I love this forum.  :wub:

It sounds like you’ve found some peace by sorting through the various thoughts posted here :) 

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I understand what you mean. I come from a family with a very high rate of auto-immune diseases (dad and grandad had RA, uncle and brother have MS), and my father also had hemochromatosis (as do two of my cousins, as I recently found out). I did get tested for hemochromatosis, as it's something that can be a "rule out" disease - as in, it can take a long while to arrive at a diagnosis sometimes because they rule out other things first. By knowing if I carry the genes, if I start to have symptoms, I can already jump the diagnosis line by sharing my results with the physician (I do indeed carry the same genes as my dad), and heading to treatment sooner.

I recently found out my grandmother had breast cancer. For some reason, I was always under the impression she had lung cancer (as did two of my aunts and my other grandmother), and I was battling with the same questions of whether I want to have the test done or not. Partly because it isn't cheap, and partly because I wasn't sure I wanted to know. 

However, working in endoscopy, I work with a lot of patients with Lynch syndrome (predisposes them to many types of cancer). I am always advising them to have their children tested, and I often end up seeing their (adult) children sooner rather than later after testing confirms they too, carry the gene. Knowing their genes and then doing adequate surveillance (which unfortunately for them means colonoscopies every year or two for the rest of their lives) is the only real barrier from getting cancer for them. 

Last but not least, I'm hoping 2019 will lead to my DH and I finally having children, and I'd like to be prepared with information on their genes, rather than just knowing the every-growing list of family diseases we have going on.

Because of these things, I ended up meeting with a genetic counselor last week and am having all manner of testing run. It's scary, but it's also comforting to some extent. Like with WLS, this gives me the tools to make better choices for myself.

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2 hours ago, delilas said:

 I did get tested for hemochromatosis, as it's something that can be a "rule out" disease - as in, it can take a long while to arrive at a diagnosis sometimes because they rule out other things first. By knowing if I carry the genes, if I start to have symptoms, I can already jump the diagnosis line by sharing my results with the physician (I do indeed carry the same genes as my dad), and heading to treatment sooner.

 

I realise this is only a very small part of the post but I thought I would share my experience as someone who also has genetic haemochromatosis and has had WLS. I'm NOT allowed to take iron supplements,  despite having almost zero iron absorption post surgery. This diagnosis definitely affects how iron studies blood testing needs to be interpreted as iron stores can get very low while haemoglobin levels stay high as your blood holds onto its iron. I know that my iron stores are very low again and expect at my next followup appointment to be told to get another infusion. Having a sleeve you may not find the non-absorption an issue like I do. I recently accompanied my sister to her bariatric pre-surgery visit and one of the first medical questions she was asked was whether she had hemochromatosis...... clearly her surgeon thinks the answer has some impact as well. At the time I decided to get tested I knew my brother had it and was undergoing regular blood draws to control it, and I had just been turned away at the blood bank because my haemoglobin level was too high to donate blood.

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